Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001430517 | SCV001633259 | likely benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2018-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169511 | SCV003870763 | uncertain significance | Inborn genetic diseases | 2023-02-07 | criteria provided, single submitter | clinical testing | The c.4396C>T (p.L1466F) alteration is located in exon 26 (coding exon 25) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 4396, causing the leucine (L) at amino acid position 1466 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |